Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000039383 | SCV000063067 | uncertain significance | not specified | 2012-07-31 | criteria provided, single submitter | clinical testing | The 392+4A>G variant in TMEM43 has not been reported in the literature nor previ ously identified by our laboratory. It has also not been detected in 2 large and broad populations (European and African American) screened by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS), which is consistent with a role in disease. This variant is located in the 5' splice region and computatio nal tools do suggest a slight impact to splicing (please note that their accurac y is unknown). Additional information is needed to fully assess the clinical sig nificance of this variant. |
| Invitae | RCV001852824 | SCV002252101 | uncertain significance | Arrhythmogenic right ventricular dysplasia 5 | 2022-01-19 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 46144). This variant has not been reported in the literature in individuals affected with TMEM43-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 4 of the TMEM43 gene. It does not directly change the encoded amino acid sequence of the TMEM43 protein. It affects a nucleotide within the consensus splice site. |